Clinical characteristics of pituitary hormone deficiency in children: A single centre experience

Background: The clinical presentation of hypopituitarism varies from asymptomatic to circulatory compromise. The late diagnosis may cause significant mortality and morbidity. There is scant data on the clinical profile.Method: A cross-sectional descriptive analysis was carried out on diagnosed children with hypopituitarism at the endocrinology unit of Lady Ridgeway Hospital for Children, Sri Lanka, from 2013-2021. The presence and progression of pituitary hormonal deficiency were ascertained.Results: Out of the total 94 children with hypopituitarism, 52 had congenital hypopituitarism with a median presenting age of 5.86 years (IQR 3-9). Short stature was the commonest presentation (59.6%). Multiple pituitary hormone deficiency (MPHD) was seen in 27 (51.91%). MPHD was associated with the presence of postnatal risk factors (OR 2.036, 95% CI 1.94-3.786) and MRI Imaging abnormalities in hypothalamic-pituitary morphogenesis (OR 1.768, 95% CI 1.087-2.874). 90.4% with GHD, 46.2% with ACTH deficiency, and 40.4% with TSH deficiency had the mean age of presentation 6.54 years, 6.11 years, and 5.56 years respectively. Of the children above 13 years, 57% showed hypogonadism. Hypoplastic anterior pituitary (40.4%) was the commonest MRI abnormality. Out of the 42 children with brain tumours, 25 (59.52%) had craniopharyngioma, and 13 (31%) had Medulloblastoma, while MPHD was seen in 32 (76.2%). Hormone deficiency at the presentation was seen in 57.1%.Conclusion: Comprehensive evaluation and periodic screening are mandatory for the timely diagnosis of MPHD.